Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

IGF-Bindungsprotein 3

Das IGFBP3-Gen kodiert ein Protein welches mit dem insulin-growth-factor interagiert und damit die Halbwärtszeit verlängert. Deshalb wird eine mögliche Beeinflussung der Wachstumsregulation bei Mutationen angenommen.

Diagnostik:

Clinic Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Research Untersuchungsmethoden Multiplex ligationsabhängige Amplifikation
Bearbeitungszeit 25
Probentyp genomic DNA
Research Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25
Probentyp genomic DNA
Clinic Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25
Probentyp genomic DNA

Krankheiten:

Wachstumshormon-Unempfindlichkeit
IGFBP3
Insulinähnlicher Wachtumsfaktor 1 Mangel
IGF1
Insulinähnlicher Wachtumsfaktor 1 Resistenz
IGF1R
Insulinähnlicher Wachtumsfaktor 1-Transportproteinmangel
IGFALS
Laron-Syndrom
GHR
SH2B1
Wachstumshormoninsensitivität mit Immundefizit
STAT5B

Referenzen:

1.

Ehrenborg E et. al. (1992) Contiguous localization of the genes encoding human insulin-like growth factor binding proteins 1 (IGBP1) and 3 (IGBP3) on chromosome 7.

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2.

Wood WI et. al. (1988) Cloning and expression of the growth hormone-dependent insulin-like growth factor-binding protein.

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3.

Ballard J et. al. (1989) On the nomenclature of the IGF binding proteins.

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4.

Ferry RJ et. al. (1999) Insulin-like growth factor binding proteins: new proteins, new functions.

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5.

Fraser HM et. al. (2000) Changes in insulin-like growth factor-binding protein-3 messenger ribonucleic acid in endothelial cells of the human corpus luteum: a possible role in luteal development and rescue.

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6.

Deal C et. al. (2001) Novel promoter polymorphism in insulin-like growth factor-binding protein-3: correlation with serum levels and interaction with known regulators.

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7.

Weinzimer SA et. al. (2001) Transferrin is an insulin-like growth factor-binding protein-3 binding protein.

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8.

Popovici RM et. al. (2001) Hypoxia regulates insulin-like growth factor-binding protein 1 in human fetal hepatocytes in primary culture: suggestive molecular mechanisms for in utero fetal growth restriction caused by uteroplacental insufficiency.

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9.

Buckway CK et. al. (2001) Mutation of three critical amino acids of the N-terminal domain of IGF-binding protein-3 essential for high affinity IGF binding.

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10.

Spagnoli A et. al. (2002) Identification of STAT-1 as a molecular target of IGFBP-3 in the process of chondrogenesis.

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11.

Spoerri PE et. al. (2003) Expression of IGFBP-3 by human retinal endothelial cell cultures: IGFBP-3 involvement in growth inhibition and apoptosis.

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12.

Geary MP et al. (2003) Sexual dimorphism in the growth hormone and insulin-like growth factor axis at birth.

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13.

Cheng I et. al. (2007) Genetic determinants of circulating insulin-like growth factor (IGF)-I, IGF binding protein (BP)-1, and IGFBP-3 levels in a multiethnic population.

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14.

Chang KH et. al. (2007) IGF binding protein-3 regulates hematopoietic stem cell and endothelial precursor cell function during vascular development.

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15.

Lofqvist C et. al. (2007) IGFBP3 suppresses retinopathy through suppression of oxygen-induced vessel loss and promotion of vascular regrowth.

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Update: 31. März 2018